软骨源性视黄酸敏感蛋白基因在先天性马蹄内翻足中的表达

目的 探讨先天性马蹄内翻足肌肉组织中的软骨源性视黄酸敏感蛋白(cartilage-de-rived retinoic acid sensitive protein,CD-RAP)基因的表达是否存在异常.方法 留取25例先天性马蹄内翻足患儿行Mckay松解术时切除的足外展拇肌,5例正常对照组织标本来源于3例创伤、1例足月引产胎儿及1例尸检(均经本院的医学伦理委员会批准).采用半定量RT-PCR方法检测马蹄内翻足及正常外展拇肌中CD-RAP基因mRNA的表达情况.结果 半定量RT-PCR研究表明马蹄内翻足患儿足外展拇肌组织中CD-RAP基因与β-actin基因平均密度(ADV)比值为0.376±0.241,相应正常组织二者比值为0.067±0.033,两组间差异具有统计学意义(t=6.143,P<0.001).结论 先天性马蹄内翻足患儿足外展拇肌组织中CD-RAP基因表达水平明显高于正常对照组,表明先天性马蹄内翻足患儿足外展拇肌组织中的CD-RAP基因表达上调,CD-RAP基因或其调节基因可能与先天性马蹄内翻足的发生有关.

Expression of cartilage-derived retinoic acid sensitive protein gene in muscular tissue from patients with congenital clubfoot

Objective To evaluate the expression level of cartilage-derived retinoic acid-sensitive protein (CD-RAP) in muscular tissue from patients with congenital clubfoot (CCF). Methods Specimens of abductor hallucis muscle were collected from twenty-five patients with CCF underwent Mckay procedure. The five normal muscular specimens (3 from trauma, 1 odinopoeia and 1 autopsy) were collected as control. CD-RAP mRNA was extracted from the muscular tissue, and the expression of CD-RAP in CCF and normal tissue was detected by semi-quantitative RT-PCR. Results Semi-quantitative RT-PCR results showed that the average density value (ADV) of CD-RAP/β-actin in CCF tissue was 0. 376 ± 0. 241 in diseased group, while that was 0. 067 ± 0. 033 in normal tissue. The expression of CD-RAP gene was higher in the muscular tissue of CCF than that of in normal tissue (t = 6. 143, P <0. 001 ). Conclusions The over-expression of CD-RAP gene in the muscular tissue is associated with CCF. CD-RAP gene or its regulator genes might he the susceptibility gene of CALF.